Increasing mapping precision of genome-wide association studies: to genotype and impute, sequence, or both?

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چکیده

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Genome-wide Association Studies

Progress in probabilistic generative models has accelerated, developing richer models with neural architectures, implicit densities, and with scalable algorithms for their Bayesian inference. However, there has been limited progress in models that capture causal relationships, for example, how individual genetic factors cause major human diseases. In this work, we focus on two challenges in par...

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Genome-wide Association Studies

Progress in probabilistic generative models has accelerated, developing richer models with neural architectures, implicit densities, and with scalable algorithms for their Bayesian inference. However, there has been limited progress in models that capture causal relationships, for example, how individual genetic factors cause major human diseases. In this work, we focus on two challenges in par...

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Genome-wide association studies.

Genome-wide association (GWA) studies are best understood as an extension of candidate gene association studies, scaled up to cover hundreds of thousands of markers across the genome in samples usually of several thousand cases and controls. The GWA approach allows the detection of much smaller effect sizes than with previous linkage-based genome-wide studies. However, this sensitivity makes th...

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determination of the impact of some factors on genotype imputation error rates for genome wide association studies in dairy cattle

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Unrecognized sequence homologies may confound genome-wide association studies

Genome-wide association studies (GWAS) have become a preferred method to identify new genetic susceptibility loci. This technique aims to understanding the molecular etiology of common diseases, but in many cases, it has led to the identification of loci with no obvious biological relevance. Herein, we show that previously unrecognized sequence homologies have caused single-nucleotide polymorph...

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ژورنال

عنوان ژورنال: Genome Biology

سال: 2017

ISSN: 1474-760X

DOI: 10.1186/s13059-017-1255-6